Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice.
Pant DC et al.
Biorxiv : the Preprint Server for Biology, 2025
Human genetic defects of sphingolipid synthesis.
Dubot P et al.
Journal of Inherited Metabolic Disease, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2023
Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
Wang P et al.
Chinese Medical Journal, 2023
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Liu X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA et al.
The Journal of Clinical Investigation, 2022
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